Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
- Albert Davida,
- Pierre Bitounb,
- Didier Lacombec,
- Jean-Claude Lambertd,
- Annie Nivelone,
- Jacqueline Vigneronf,
- Alain Verloesg
- aDepartment of Paediatrics and Human Genetics, Nantes University Hospital, France, bDepartment of Paediatrics and Genetics, Hôpital Jean Verdier, Bondy, France, cDepartment of Paediatrics and Human Genetics, Bordeaux University Hospital, France, dDepartment of Genetics, Centre Hospitalier Universitaire de l’Archet, Nice, France, eGenetic Centre, Children’s Hospital, Dijon University Hospital, France, fDepartment of Neonatology and Genetics, Regional Maternity Antoine Pinard, Nancy, France, gWallonia Centre of Human Genetics, Liège University, CHU Sart Tilman, B-4000 Liège, Belgium
- Professor Verloes.
- Received 30 July 1998
- Revised 23 March 1999
Abstract
McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and reported) in very young children, whereas the diagnosis of BBS often is delayed to the teenage years.
We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS.
The overlap of BBS and MKKS is a real diagnostic pitfall and its importance has to be stressed, for genetic counselling, for clinical management and follow up, and for molecular approaches. The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation. We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.
